Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient

Kwang Eon Shim, Chung Lee, Jin Up Kim, Gwang Ho Choi, Kyoung Min Kwak, Seok Hyung Kim, Hyunho Kim, Jong Woo Yoon, Tae Young Shin, Chang Wook Jeong, Hyunsuk Kim

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2 Scopus citations


Renal cell carcinoma (RCC) is known to be more prevalent in autosomal dominant polycystic kidney disease (ADPKD) patients than in the general population. However, little is known about genetic alterations or changes in signaling pathways in RCC in patients with ADPKD.In the current report, whole-exome and transcriptome sequencing was performed for paired samples of tumor tissue, cyst tissue, and peripheral blood (triple set) from a patient diagnosed with ADPKD and RCC.A 68-year-old man with ADPKD underwent left partial nephrectomy and was diagnosed with RCC. DNA and RNA were extracted from the triple set of the patient. A nonsense mutation in PKD2 (p.Arg742X), which is well known as a pathogenic variant in ADPKD, was identified in the paired triple set. In the tumor sample, a somatic missense mutation of VHL (p.S65L) was found, which is known as a pathogenic mutation in Von Hippel-Lindau syndrome and RCC. Furthermore, loss of chromosome 3p, where VHL is located, was detected. Upregulated VEGFA was found in the analysis of RCC mRNA, which might be caused by the loss of VHL and accelerate angiogenesis in RCC.Proliferation was also expected to be activated by the MAPK signaling pathway, including NRAS and MAPK1 expression.

Original languageEnglish
Pages (from-to)E20071
JournalMedicine (United States)
Issue number19
StatePublished - 21 May 2020

Bibliographical note

Funding Information:
This research was supported by a grant of the National Research Foundation of Korea (grant number: NRF-2016R1D1A1B03934173 and NRF-2016R1A2B4015516) and the Hallym University Research Fund 2017 (HURF-2017–55). This research was financially supported by the Ministry of Trade, Industry and Energy (MOTIE) and Korea Institute for Advancement of Technology (KIAT) through the National Innovation Cluster R&D program(P0006662_Development of monitoring system using markers related to metabolic diseases).

Publisher Copyright:
© 2020 Lippincott Williams and Wilkins. All rights reserved.


  • MAPK signaling pathway
  • VHL
  • autosomal dominant polycystic kidney disease (ADPKD)
  • renal cell carcinoma (RCC)


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